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763278004: Facial dysmorphism, cleft palate, loose skin syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3638371010 Dysmorphism, cleft palate, loose skin syndrome en Synonym Active Case insensitive SNOMED CT core
3638375018 Facial dysmorphism, cleft palate, loose skin syndrome en Synonym Active Case insensitive SNOMED CT core
3638376017 Facial dysmorphism, cleft palate, loose skin syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3638372015 A rare genetic developmental defect during embryogenesis with characteristics of severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum and mixed hearing loss. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Facial dysmorphism, cleft palate, loose skin syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Facial dysmorphism, cleft palate, loose skin syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Facial dysmorphism, cleft palate, loose skin syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome Occurrence Congenital false Inferred relationship Some 4
Facial dysmorphism, cleft palate, loose skin syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
Facial dysmorphism, cleft palate, loose skin syndrome Finding site Bone structure of head false Inferred relationship Some 4
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 4
Facial dysmorphism, cleft palate, loose skin syndrome Interprets Intellectual ability true Inferred relationship Some 4
Facial dysmorphism, cleft palate, loose skin syndrome Has interpretation Impaired true Inferred relationship Some 4
Facial dysmorphism, cleft palate, loose skin syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
Facial dysmorphism, cleft palate, loose skin syndrome Has interpretation Impaired true Inferred relationship Some 5
Facial dysmorphism, cleft palate, loose skin syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Facial dysmorphism, cleft palate, loose skin syndrome Is a Cleft palate true Inferred relationship Some
Facial dysmorphism, cleft palate, loose skin syndrome Is a Congenital anomaly of skin true Inferred relationship Some
Facial dysmorphism, cleft palate, loose skin syndrome Occurrence Congenital true Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome Finding site Skin structure true Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome Is a Intellectual disability true Inferred relationship Some
Facial dysmorphism, cleft palate, loose skin syndrome Finding site Face structure false Inferred relationship Some 2
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology Developmental abnormality false Inferred relationship Some 2
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 1
Facial dysmorphism, cleft palate, loose skin syndrome Occurrence Congenital true Inferred relationship Some 1
Facial dysmorphism, cleft palate, loose skin syndrome Finding site Palatal structure false Inferred relationship Some 1
Facial dysmorphism, cleft palate, loose skin syndrome Occurrence Congenital true Inferred relationship Some 2
Facial dysmorphism, cleft palate, loose skin syndrome Finding site Face structure true Inferred relationship Some 1
Facial dysmorphism, cleft palate, loose skin syndrome Finding site Palatal structure true Inferred relationship Some 2
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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